Linked Data
dbSNP Id:
rs753213373
ExAC:
2:113514313 T / A
gnomAD v2:
2-113514313-T-A
gnomAD v4:
2-112756736-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756736T>A , CM000664.2:g.112756736T>A | GRCh38 |
| NC_000002.11:g.113514313T>A , CM000664.1:g.113514313T>A | GRCh37 |
| NC_000002.10:g.113230784T>A | NCBI36 |
| NG_041820.1:g.12942A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.635A>T MANE Select | ENSP00000305204.6:p.Asp212Val | |
| ENST00000302450.10:c.635A>T | ENSP00000305204.6:p.Asp212Val | |
| ENST00000435431.5:c.478+157A>T | ENSP00000414834.1:n.478+157A>T | |
| NM_001304361.1:c.140A>T | NP_001291290.1:p.Asp47Val | |
| NM_152515.4:c.635A>T | NP_689728.3:p.Asp212Val | |
| NR_130712.1:n.557+157A>T | ||
| XM_011510666.1:c.140A>T | XP_011508968.1:p.Asp47Val | |
| XM_011510666.2:c.140A>T | XP_011508968.1:p.Asp47Val | |
| NM_152515.5:c.635A>T MANE Select | NP_689728.3:p.Asp212Val | |
| NM_001304361.2:c.140A>T | NP_001291290.1:p.Asp47Val | |
| NR_130712.2:n.489+157A>T |